ArticleThe Journal of clinical endocrinology and metabolism2018
Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls.
Article in The Journal of clinical endocrinology and metabolism, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 2 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
36 citing papers in PubMed, 2 syntheses or guidelines pooled it, 57 citations in OpenAlex.
- Multidimensional Characterisation of Eating Behaviour in Genetic Obesity: A Systematic Review.Obesity facts · 2026Pooled it
- Consensus clinical management guidelines for Alström syndrome.Orphanet journal of rare diseases · 2020Pooled it
- Alström syndrome in a Chinese girl: a case report and literature review.Translational pediatrics · 2026Article
- Case Report: Identification of two novelFrontiers in genetics · 2026Article
- Case Report: Efficacy and safety of SGLT2 inhibitors in patients with Alström syndrome: a follow-up report of two siblings from the same family.Frontiers in endocrinology · 2026Article
- Defining Puberty and Spectrum of Hypogonadism in Alström Syndrome.The Journal of clinical endocrinology and metabolism · 2025Observational
- Effectiveness of the Dual GIP/GLP1-Agonist Tirzepatide in 2 Cases of Alström Syndrome, a Rare Obesity Syndrome.The Journal of clinical endocrinology and metabolism · 2025Article
- Endocrine metabolism characteristics of Alström syndrome in 25 Chinese patients and identification of a new splice site in the ALMS1 gene.Diabetology & metabolic syndrome · 2025Article
- The Ovary-Liver Axis: Molecular Science and Epidemiology.International journal of molecular sciences · 2025Review
- Improving the diagnosis of hyperphagia in melanocortin-4 receptor pathway diseases.Obesity (Silver Spring, Md.) · 2025Review
- The "Burden" of Childhood Obesity on Bone Health: A Look at Prevention and Treatment.Nutrients · 2025Review
- First live birth afterFrontiers in reproductive health · 2025Article
- Differentiating monogenic and syndromic obesities from polygenic obesity: Assessment, diagnosis, and management.Obesity pillars · 2024Review
- Emerging mechanistic understanding of cilia function in cellular signalling.Nature reviews. Molecular cell biology · 2024Review
- Alstrom syndrome with classical findings: a rare case report of monogenic ciliopathy co-occurrence in twins.Annals of medicine and surgery (2012) · 2024Article
- Alström syndrome-wide clinical variability within the same variant: a case report and literature review.Frontiers in pediatrics · 2024Article
- Ciliopathies in pediatric endocrinology.Annals of pediatric endocrinology & metabolism · 2023Article
- Supportive care in a patient with Alstrom syndrome with hyperphenylalaninemia and sleep problems.Clinical case reports · 2023Article
- Identification of bone metabolism disorders in patients with Alström and Bardet-Biedl syndromes based on markers of bone turnover and mandibular atrophy.Bone reports · 2022Article
- Islet cilia and glucose homeostasis.Frontiers in cell and developmental biology · 2022Review
Corrections and comments
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Authors and funding
12 authors at 7 institutions in 1 country.
Funding
Abstract
Background: Alström syndrome (AS), a monogenic form of obesity, is caused by recessive mutations in the centrosome- and basal body-associated gene ALMS1. AS is characterized by retinal dystrophy, sensory hearing loss, cardiomyopathy, childhood obesity, and metabolic derangements. Objective: We sought to characterize the endocrine and metabolic features of AS while accounting for obesity as a confounder by comparing patients with AS to body mass index (BMI)-matched controls. Methods: We evaluated 38 patients with AS (age 2 to 38 years) who were matched with 76 controls (age 2 to 48 years) by age, sex, race, and BMI. Fasting biochemistries, mixed meal test (MMT), indirect calorimetry, dual-energy X-ray absorptiometry, and MRI/magnetic resonance spectroscopy were performed. Results: Frequent abnormalities in AS included 76% obesity, 37% type 2 diabetes mellitus (T2DM), 29% hypothyroidism (one-third central, two-thirds primary), 3% central adrenal insufficiency, 57% adult hypogonadism (one-third central, two-thirds primary), and 25% female hyperandrogenism. Patients with AS and controls had similar BMI z scores, body fat, waist circumference, abdominal visceral fat, muscle fat, resting energy expenditure (adjusted for lean mass), free fatty acids, glucagon, prolactin, ACTH, and cortisol. Compared with controls, patients with AS were shorter and had lower IGF-1 concentrations (Ps ≤ 0.001). Patients with AS had significantly greater fasting and MMT insulin resistance indices, higher MMT glucose, insulin, and C-peptide values, higher HbA1c, and higher prevalence of T2DM (Ps < 0.001). Patients with AS had significantly higher triglycerides, lower high-density lipoprotein cholesterol, and a 10-fold greater prevalence of metabolic syndrome (Ps < 0.001). Patients with AS demonstrated significantly greater liver triglyceride accumulation and higher transaminases (P < 0.001). Conclusion: Severe insulin resistance and T2DM are the hallmarks of AS. However, patients with AS may present with multiple other endocrinopathies affecting growth and development.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.